IGF1R, insulin like growth factor 1 receptor, 3480

N. diseases: 556; N. variants: 92
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.320 GeneticVariation phenotype BEFREE We report a six-year-old boy who presented with short stature, microcephaly, dysmorphic features, and developmental delay and who was identified with a terminal deletion of 15q26.2q26.3 containing the insulin-like growth factor receptor (IGF1R) gene in addition to a terminal duplication of the 4q35.1q35.2 region. 28720553 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.320 GeneticVariation phenotype BEFREE Here we report small, intragenic deletions of IGF1R, identified by chromosome microarray analysis in two unrelated families affected primarily with neuropsychiatric phenotypes including developmental delay, intellectual disability and aggressive/autoaggressive behaviors. 23486542 2013
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.320 Biomarker phenotype GENOMICS_ENGLAND Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations. 23045302 2013